[Adrenogenital syndrome--molecular biology and prenatal diagnosis].
Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders affecting the synthesis of adrenal corticosteroids. CAH is caused by a functional defect in any one of five enzymatic steps required for the biosynthesis of cortisol. Deficiency of 21-hydroxylase is the most frequent of these disorders, accounting for approximately 95% of all CAH cases. 21-hydroxylase deficiency is due to mutations in the gene CYP21 encoding the enzyme. Using molecular biology techniques mutations in the involved families can be characterized, thereby allowing prenatal diagnosis in following pregnancies. Likewise fast and reliable carrier diagnosis can be offered to relatives of the patient.
Ohlsson
G
G
H:S Rigshospitalet, Juliane Marie Centret, afsnit for klinisk genetik og afdeling for vaekst og reproduktion.
Müller
J R
JR
Schwartz
M
M
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005821:Genetic Techniques; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis
Adrenogenitalt syndrom--molekyloerbiologi og proenatal diagnostik.